Canonical Allele Identifier: CA349466946

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 466671
• ClinVar RCV Id: RCV001378680
• dbSNP Id: rs794729538
• MyVariant Identifiers: chr2:g.179410995A>C (hg19) ; chr2:g.178546268A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546268A>C , CM000664.2:g.178546268A>C	GRCh38
NC_000002.11:g.179410995A>C , CM000664.1:g.179410995A>C	GRCh37
NC_000002.10:g.179119241A>C	NCBI36
NG_011618.3:g.289535T>G , LRG_391:g.289535T>G
NG_051363.1:g.28442A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.87359T>G (TTN)	ENSP00000343764.6:p.Leu29120Ter
ENST00000342175.11:c.68444T>G (TTN)	ENSP00000340554.6:p.Leu22815Ter
ENST00000359218.10:c.68243T>G (TTN)	ENSP00000352154.5:p.Leu22748Ter
ENST00000342175.10:c.68444T>G (TTN)	ENSP00000340554.6:p.Leu22815Ter
ENST00000342992.10:c.87359T>G (TTN)	ENSP00000343764.6:p.Leu29120Ter
ENST00000359218.9:c.68243T>G (TTN)	ENSP00000352154.5:p.Leu22748Ter
ENST00000460472.6:c.67868T>G (TTN)	ENSP00000434586.1:p.Leu22623Ter
ENST00000589042.5:c.95063T>G (TTN) MANE Select	ENSP00000467141.1:p.Leu31688Ter
ENST00000591111.5:c.90140T>G (TTN)	ENSP00000465570.1:p.Leu30047Ter
ENST00000615779.4:c.90140T>G (TTN)	ENSP00000483597.1:p.Leu30047Ter
NM_001256850.1:c.90140T>G (TTN)	NP_001243779.1:p.Leu30047Ter
NM_001267550.2:c.95063T>G (TTN) MANE Select	NP_001254479.2:p.Leu31688Ter
NM_003319.4:c.67868T>G (TTN)	NP_003310.4:p.Leu22623Ter
NM_133378.4:c.87359T>G (TTN)	NP_596869.4:p.Leu29120Ter
NM_133432.3:c.68243T>G (TTN)	NP_597676.3:p.Leu22748Ter
NM_133437.4:c.68444T>G (TTN)	NP_597681.4:p.Leu22815Ter
NR_038271.1:n.446+22632A>C (TTN-AS1)
NR_038272.1:n.2043+3907A>C (TTN-AS1)
XM_011511729.1:c.94160T>G (TTN)	XP_011510031.1:p.Leu31387Ter
XM_011511730.1:c.68054T>G (TTN)	XP_011510032.1:p.Leu22685Ter
XM_011511731.1:c.67913T>G (TTN)	XP_011510033.1:p.Leu22638Ter
XM_017004819.1:c.93956T>G (TTN)	XP_016860308.1:p.Leu31319Ter
XM_017004820.1:c.89354T>G (TTN)	XP_016860309.1:p.Leu29785Ter
XM_017004821.1:c.89351T>G (TTN)	XP_016860310.1:p.Leu29784Ter
XM_017004822.1:c.86393T>G (TTN)	XP_016860311.1:p.Leu28798Ter
XM_017004823.1:c.68009T>G (TTN)	XP_016860312.1:p.Leu22670Ter
XM_024453094.1:c.89504T>G (TTN)	XP_024308862.1:p.Leu29835Ter
XM_024453095.1:c.89501T>G (TTN)	XP_024308863.1:p.Leu29834Ter
XM_024453096.1:c.88934T>G (TTN)	XP_024308864.1:p.Leu29645Ter
XM_024453097.1:c.86276T>G (TTN)	XP_024308865.1:p.Leu28759Ter
XM_024453098.1:c.86195T>G (TTN)	XP_024308866.1:p.Leu28732Ter
XM_024453099.1:c.67958T>G (TTN)	XP_024308867.1:p.Leu22653Ter
XM_024453100.1:c.57812T>G (TTN)	XP_024308868.1:p.Leu19271Ter